ClinVar Miner

Variants studied for Diamond-Blackfan anemia 1

Coded as:
Minimum submission review status: Collection method:
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Gene type:
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If a variant has more than one submission, it may be counted in more than one significance column. If this is the case, the total number of variants will be less than the sum of the other cells.

pathogenic likely pathogenic uncertain significance likely benign benign total
22 4 24 14 9 71

Gene and significance breakdown #

Total genes and gene combinations: 5
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
RPS19 18 3 23 12 9 63
HEATR3 3 0 0 0 0 3
DIPK1A, RPL5 1 0 0 1 0 2
MIR6797, RPS19 0 1 1 0 0 2
RPL5 0 0 0 1 0 1

Submitter and significance breakdown #

Total submitters: 20
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Illumina Laboratory Services, Illumina 0 0 11 5 8 24
Fulgent Genetics, Fulgent Genetics 0 0 4 9 1 14
OMIM 9 0 0 0 0 9
Revvity Omics, Revvity 3 0 3 0 0 6
Neuberg Centre For Genomic Medicine, NCGM 1 1 2 0 0 4
Baylor Genetics 0 0 3 0 0 3
3billion 1 1 1 0 0 3
Mendelics 0 0 0 2 0 2
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 2 0 0 0 0 2
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 1 0 1 0 0 2
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 2 0 0 0 0 2
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 1 0 0 0 1 2
Johns Hopkins Genomics, Johns Hopkins University 1 0 1 0 0 2
Hematology Diagnostic Laboratory, Assistance Publique-Hôpitaux de Paris - Robert Debre Hospital 2 0 0 0 0 2
Genetic Services Laboratory, University of Chicago 0 1 0 0 0 1
Juno Genomics, Hangzhou Juno Genomics, Inc 1 0 0 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 1 0 0 0 1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 1 0 0 0 0 1
Leuven Cancer Institute, KU Leuven and UZ Leuven 1 0 0 0 0 1
Medical Genetics Center, Maternal and Child Health Hospital of Hubei Province 1 0 0 0 0 1

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